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Research

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Systematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases

Research

International research utilizing the Early Development Instrument (EDI) as a measure of early child development: Introduction to the Special Issue

This opening paper presents the background to this Special Issue devoted to new international research using Early Development Instrument

Research

Human papillomavirus (HPV)-16/18 AS04-adjuvanted vaccine for the prevention of cervical cancer and HPV-related diseases

HPV-16/18 AS04-adjuvanted vaccine reduces HPV-16/18 infection and associated cervical endpoints in women regardless of age, location, or sexual experience

Research

The effect of endotracheal tubes versus laryngeal mask airways on perioperative respiratory adverse events in infants: A randomised controlled trial

Evaluating the difference of the effects of Laryngeal mask airways compared to endotracheal tubes in older children (>1 year) in incidents of PRAE in infants.

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Infective respiratory syncytial virus is present in human cord blood samples and most prevalent during winter months

Human respiratory syncytial virus (RSV) remains the most common cause of severe lower respiratory tract disease amongst infants, and continues to cause annual epidemics of respiratory disease every winter worldwide.

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The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort

This cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs

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Early lung surveillance of cystic fibrosis: what have we learnt?

Newborn screening (NBS) for cystic fibrosis (CF) provides an opportunity to commence management and therapeutic interventions significantly earlier

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Patterns of participation in year 9 academic testing and factors predicting absence on the day of test

Policies aiming to improve educational outcomes are typically based on academic testing data. However, such data only reflects those who complete the test.

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Early nutrition and its effect on allergy development

Nutrition is one of the most easily modifiable environmental factors during early life that may play a role in allergic disease prevention.